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NM_001312673.2(PCYT1A):c.296C>T (p.Ala99Val) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 4, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000622339.2

Allele description [Variation Report for NM_001312673.2(PCYT1A):c.296C>T (p.Ala99Val)]

NM_001312673.2(PCYT1A):c.296C>T (p.Ala99Val)

Gene:
PCYT1A:phosphate cytidylyltransferase 1A, choline [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_001312673.2(PCYT1A):c.296C>T (p.Ala99Val)
HGVS:
  • NC_000003.12:g.196248245G>A
  • NG_042817.1:g.44508C>T
  • NM_001312673.2:c.296C>TMANE SELECT
  • NM_005017.4:c.296C>T
  • NP_001299602.1:p.Ala99Val
  • NP_005008.2:p.Ala99Val
  • NC_000003.11:g.195975116G>A
  • NM_005017.2:c.296C>T
  • P49585:p.Ala99Val
Protein change:
A99V; ALA99VAL
Links:
UniProtKB: P49585#VAR_071084; OMIM: 123695.0001; dbSNP: rs587777189
NCBI 1000 Genomes Browser:
rs587777189
Molecular consequence:
  • NM_001312673.2:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005017.4:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741194Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Feb 4, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000741194.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Feb 14, 2024